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Wyszukujesz frazę ""BRCA1"" wg kryterium: Temat


Tytuł:
Analytical sensitivity of a method is critical in detection of low-level BRCA1 constitutional epimutation.
Autorzy:
Machaj F; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland.
Sokolowska KE; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland.
Borowski K; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland.
Retfiński S; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland.
Strapagiel D; Biobank Laboratory, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 139, 90-237, Lodz, Poland.
Sobalska-Kwapis M; Biobank Laboratory, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 139, 90-237, Lodz, Poland.
Huzarski T; Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland.
Lubiński J; Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland.
Wojdacz TK; Independent Clinical Epigenetics Laboratory, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland. .
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Źródło:
Scientific reports [Sci Rep] 2023 Sep 26; Vol. 13 (1), pp. 16102. Date of Electronic Publication: 2023 Sep 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Labor, Obstetric*
Female ; Humans ; Pregnancy ; Research Design ; Genetic Profile ; Health Status ; BRCA1 Protein/genetics
Czasopismo naukowe
Tytuł:
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
Autorzy:
Bassi N; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.
Hovland HN; Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway.
Rasheed K; Department of Medical Biology, University of Tromsø, Tromsø, Norway.; Present address: Institute for Clinical and Molecular Medicine, Norwegian University of Science and Technology, NTNU, Trondheim, Norway.
Jarhelle E; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.; Northern Norway Family Cancer Center, University Hospital of North Norway, Tromsø, Norway.
Pedersen N; Department of Biological Sciences, University of Bergen, Bergen, Norway.
Mchaina EK; Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Bakkan SME; Department of Biological Sciences, University of Bergen, Bergen, Norway.
Iversen N; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Høberg-Vetti H; Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Haukanes BI; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Knappskog PM; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway.
Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. .; Department of Clinical Science, University of Bergen, Bergen, Norway. .
Ognedal E; Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Van Ghelue M; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, Tromsø, Norway.; Northern Norway Family Cancer Center, University Hospital of North Norway, Tromsø, Norway.; Department of Clinical Medicine, University of Tromsø, Tromsø, Norway.
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Źródło:
BMC cancer [BMC Cancer] 2023 Apr 21; Vol. 23 (1), pp. 368. Date of Electronic Publication: 2023 Apr 21.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms*/genetics
Breast Neoplasms*/pathology
Genes, BRCA1*
Recombinational DNA Repair*
Transcriptional Activation*
Female ; Humans ; BRCA1 Protein/genetics ; BRCA1 Protein/metabolism ; Genetic Predisposition to Disease ; Germ Cells/metabolism
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Tytuł:
New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples.
Autorzy:
Gajda-Walczak A; Faculty of Chemistry, University of Warsaw, Pasteura 1 Str., 02-093, Warsaw, Poland.
Potęga A; Department of Pharmaceutical Technology and Biochemistry, Faculty of Chemistry, Gdańsk University of Technology, Narutowicza 11/12 Str., 80-233, Gdańsk, Poland.
Kowalczyk A; Faculty of Chemistry, University of Warsaw, Pasteura 1 Str., 02-093, Warsaw, Poland.
Sek S; Faculty of Chemistry, Biological and Chemical Research Centre, University of Warsaw, Żwirki i Wigury 101 Str., 02-089, Warsaw, Poland.
Zięba S; Molecular Diagnostics, Holy Cross Cancer Center, Stefana Artwińskiego 3 Str., 25-734, Kielce, Poland.
Kowalik A; Molecular Diagnostics, Holy Cross Cancer Center, Stefana Artwińskiego 3 Str., 25-734, Kielce, Poland.; Division of Medical Biology, Institute of Biology, Jan Kochanowski University, Uniwersytecka 7 Str., 25-406, Kielce, Poland.
Kudelski A; Faculty of Chemistry, University of Warsaw, Pasteura 1 Str., 02-093, Warsaw, Poland.
Nowicka AM; Faculty of Chemistry, University of Warsaw, Pasteura 1 Str., 02-093, Warsaw, Poland. .
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Źródło:
Scientific reports [Sci Rep] 2023 May 05; Vol. 13 (1), pp. 7316. Date of Electronic Publication: 2023 May 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Breast Neoplasms*/diagnosis
Breast Neoplasms*/genetics
Humans ; Female ; BRCA1 Protein/genetics ; Mutation ; DNA ; Nucleotides
Czasopismo naukowe
Tytuł:
Partial Reduction in BRCA1 Gene Dose Modulates DNA Replication Stress Level and Thereby Contributes to Sensitivity or Resistance.
Autorzy:
Classen S; Laboratory of Radiobiology and Experimental Radiooncology, Center of Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Rahlf E; Laboratory of Radiobiology and Experimental Radiooncology, Center of Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Jungwirth J; Project Group Biochemistry, Leibniz Institute on Aging-Fritz Lipmann Institute, 07745 Jena, Germany.
Albers N; Laboratory of Radiobiology and Experimental Radiooncology, Center of Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Hebestreit LP; Laboratory of Radiobiology and Experimental Radiooncology, Center of Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Zielinski A; Laboratory of Radiobiology and Experimental Radiooncology, Center of Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Poole L; Laboratory of Radiobiology and Experimental Radiooncology, Center of Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Groth M; CF Next-Generation Sequencing, Leibniz Institute on Aging-Fritz Lipmann Institute, Beutenbergstrasse 11, 07745 Jena, Germany.
Koch P; CF Life Science Computing, Leibniz Institute on Aging-Fritz Lipmann Institute, Beutenbergstrasse 11, 07745 Jena, Germany.
Liehr T; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, 07747 Jena, Germany.
Kankel S; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Am Klinikum 1, 07747 Jena, Germany.
Cordes N; OncoRay-National Center for Radiation Research in Oncology, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, PF 41, 01307 Dresden, Germany.; National Center for Tumor Diseases, Partner Site Dresden: German Cancer Research Center, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.; Department of Radiotherapy and Radiation Oncology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Fetscherstr. 74, PF 50, 01307 Dresden, Germany.; Helmholtz-Zentrum Dresden-Rossendorf, Institute of Radiooncology-OncoRay, Bautzner Landstr. 400, 01328 Dresden, Germany.; German Cancer Consortium (DKTK), Partner Site Dresden, and German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69192 Heidelberg, Germany.
Petersen C; Department of Radiotherapy and Radiooncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Rothkamm K; Laboratory of Radiobiology and Experimental Radiooncology, Center of Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Pospiech H; Project Group Biochemistry, Leibniz Institute on Aging-Fritz Lipmann Institute, 07745 Jena, Germany.; Faculty of Biochemistry and Molecular Medicine, University of Oulu, 90014 Oulu, Finland.
Borgmann K; Laboratory of Radiobiology and Experimental Radiooncology, Center of Oncology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Nov 01; Vol. 23 (21). Date of Electronic Publication: 2022 Nov 01.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Breast Neoplasms*/genetics
Breast Neoplasms*/drug therapy
Humans ; Female ; Cell Line, Tumor ; BRCA1 Protein/genetics ; BRCA1 Protein/metabolism ; Homologous Recombination ; DNA Repair/genetics ; DNA Replication ; DNA Damage
Czasopismo naukowe
Tytuł:
BRCA1 gene polymorphism and finger dermatoglyphic patterns in Ghanaian breast cancer patients: a quantitative cross-sectional approach.
Autorzy:
Nkansah EO; Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana.
Ahenkorah J; Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana.
Adutwum-Ofosu K; Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana.
Adjei RL; West African Center for Cell Biology of Infectious Pathogens, University of Ghana, Legon, Accra, Ghana.
Adu-Aryee NA; Department of Surgery, University of Ghana Medical School, University of Ghana, Accra, Ghana.; Department of Surgery, Korle-Bu Teaching Hospital, Accra, Ghana.
Tagoe EA; Department of Medical Laboratory Sciences, School of Biomedical and Allied Health Sciences, University of Ghana, Accra, Ghana.
Koney NK; Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana.
Aryee NA; Department of Medical Biochemistry, University of Ghana Medical School, University of Ghana, Accra, Ghana.
Hottor BA; Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana.
Blay RM; Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana.
Clegg-Lamptey JN; Department of Surgery, University of Ghana Medical School, University of Ghana, Accra, Ghana.; Department of Surgery, Korle-Bu Teaching Hospital, Accra, Ghana.
Arko-Boham B; Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana.
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Źródło:
The Pan African medical journal [Pan Afr Med J] 2022 Dec 28; Vol. 43, pp. 209. Date of Electronic Publication: 2022 Dec 28 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Breast Neoplasms*/genetics
Humans ; Female ; Ghana ; Dermatoglyphics ; Polymorphism, Single Nucleotide ; BRCA1 Protein/genetics
Czasopismo naukowe
Tytuł:
BRCA 1/2 mutations and risk of uterine cancer: a systematic review and meta-analysis.
Autorzy:
Zakerinasab F; Mashhad University of Medical Sciences, Mashhad, Iran.
Behfar Q; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Parsaee R; Master Student in Molecular Genetics, Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Zadeh RH; Student's Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Foroughi E; School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Amirbeik A; Student Research Committee, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Ahmadi G; Mashhad University of Medical Sciences, Mashhad, Iran. Ghazale_.
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Źródło:
BMC genomic data [BMC Genom Data] 2024 Jan 31; Vol. 25 (1), pp. 13. Date of Electronic Publication: 2024 Jan 31.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Uterine Neoplasms*/epidemiology
Uterine Neoplasms*/genetics
Uterine Neoplasms*/prevention & control
Humans ; Female ; BRCA2 Protein/genetics ; Mutation ; Cross-Sectional Studies
Czasopismo naukowe
Tytuł:
Central nervous system metastases in breast cancer patients with germline BRCA pathogenic variants compared to non-carriers: a matched-pair analysis.
Autorzy:
Ben-Zion Berliner M; Breast cancer Unit, Davidoff Cancer Center, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel. .
Yust-Katz S; Neuro-Oncology Unit, Davidoff Cancer Center, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Lavie I; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Kedar I; The Raphael Recanati Genetics Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Yerushalmi R; Breast cancer Unit, Davidoff Cancer Center, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
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Źródło:
BMC cancer [BMC Cancer] 2024 Feb 16; Vol. 24 (1), pp. 219. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
BRCA2 Protein*/genetics
Breast Neoplasms*/pathology
Central Nervous System Neoplasms*/genetics
Central Nervous System Neoplasms*/secondary
Female ; Humans ; Central Nervous System ; Germ Cells/pathology ; Germ-Line Mutation ; Matched-Pair Analysis ; Prognosis ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Precision Medicine in Castration-Resistant Prostate Cancer: Advances, Challenges, and the Landscape of PARPi Therapy-A Narrative Review.
Autorzy:
Dimitrov G; Department of Medical Oncology, Medical University of Sofia, University Hospital 'Tsaritsa Yoanna', 1527 Sofia, Bulgaria.
Mangaldzhiev R; Department of Medical Oncology, Medical University of Sofia, University Hospital 'Tsaritsa Yoanna', 1527 Sofia, Bulgaria.
Slavov C; Department of Urology, Medical University of Sofia, University Hospital 'Tsaritsa Yoanna', 1527 Sofia, Bulgaria.
Popov E; Department of Urology, Medical University of Sofia, University Hospital 'Tsaritsa Yoanna', 1527 Sofia, Bulgaria.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 11; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 11.
Typ publikacji:
Journal Article; Review
MeSH Terms:
BRCA1 Protein*/genetics
Prostatic Neoplasms, Castration-Resistant*/drug therapy
Prostatic Neoplasms, Castration-Resistant*/genetics
Prostatic Neoplasms, Castration-Resistant*/pathology
Male ; Female ; Humans ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; Precision Medicine ; BRCA2 Protein/genetics ; Poly(ADP-ribose) Polymerases
Czasopismo naukowe
Tytuł:
A novel targeted NGS panel identifies numerous homologous recombination deficiency (HRD)-associated gene mutations in addition to known BRCA mutations.
Autorzy:
Vogel A; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany.
Haupts A; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany.
Kloth M; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany.
Roth W; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany.
Hartmann N; Institute of Pathology, University Medical Center Mainz, Langenbeckstraße 1, Mainz, 55131, Germany. .
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Źródło:
Diagnostic pathology [Diagn Pathol] 2024 Jan 06; Vol. 19 (1), pp. 9. Date of Electronic Publication: 2024 Jan 06.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
BRCA2 Protein*/genetics
Male ; Humans ; Retrospective Studies ; Mutation ; Homologous Recombination
Czasopismo naukowe
Tytuł:
Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study.
Autorzy:
Weizel I; The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel.
Shavit T; The IVF unit, Assuta Medical Center, Tel Aviv, Israel.; Faculty of Medicine, Ben Gurion University of the Negev, Beer Sheva, Israel.
Shuli Y; The Unit for Medical Genetics, Assuta Medical Center, Tel Aviv, Israel.
Adler Lazarovich C; The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel.
Halevi R; The Unit for Medical Genetics, Assuta Medical Center, Tel Aviv, Israel.
Ben Ari T; The IVF unit, Assuta Medical Center, Tel Aviv, Israel.
Yaacobi-Artzi S; The IVF unit, Assuta Medical Center, Tel Aviv, Israel.
Bentov Y; The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel.; Department of Obstetrics and Gynecology, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Feldman B; The Unit for Medical Genetics, Assuta Medical Center, Tel Aviv, Israel.
Hershko Klement A; The IVF Unit, Department of Obstetrics and Gynecology, Hadassah Mount Scopus- Hebrew University Medical Center, Mt Scopus, Jerusalem, 9112001, Israel. .; Department of Obstetrics and Gynecology, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. .
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Źródło:
Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2024 Jan 03; Vol. 22 (1), pp. 8. Date of Electronic Publication: 2024 Jan 03.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Preimplantation Diagnosis*/methods
Pregnancy ; Humans ; Male ; Female ; Cohort Studies ; Retrospective Studies ; BRCA2 Protein/genetics ; Genetic Testing/methods ; Fertilization in Vitro/methods ; Mutation ; Aneuploidy ; Parents
Czasopismo naukowe
Tytuł:
Progression-free survival and overall survival after BRCA1/2-associated epithelial ovarian cancer: A matched cohort study.
Autorzy:
Heemskerk-Gerritsen BAM; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
Hollestelle A; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
van den Beek I; Department of Human Genetics, Amsterdam University Medical Center (University of Amsterdam), Amsterdam, the Netherlands.
van Driel WJ; Department of Gynecology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
van Engelen K; Department of Clinical Genetics, Amsterdam University Medical Center (VUmc), Amsterdam, the Netherlands.
Gómez Garcia EB; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
de Hullu JA; Department of Obstetrics & Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands.
Koudijs MJ; Department of Biomedical Genetics, Utrecht University Medical Center, Utrecht, the Netherlands.
Mourits MJE; Department of Gynecologic Oncology, University Medical Center Groningen, Groningen, the Netherlands.
Hooning MJ; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
Boere IA; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
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Źródło:
PloS one [PLoS One] 2022 Sep 22; Vol. 17 (9), pp. e0275015. Date of Electronic Publication: 2022 Sep 22 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/drug therapy
Ovarian Neoplasms*/genetics
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Carcinoma, Ovarian Epithelial/drug therapy ; Carcinoma, Ovarian Epithelial/genetics ; Cohort Studies ; Female ; Germ-Line Mutation ; Humans ; Progression-Free Survival
Czasopismo naukowe
Tytuł:
Population-based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants.
Autorzy:
Castillo C; Servicio de Oncología Clínica, Hospital de Clínicas 'Dr. Manuel Quintela', Facultad de Medicina, Universidad de la Republica, Montevideo, Uruguay.
Artagaveytia N; Departamento Básico de Medicina, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Brignoni L; Departamento Básico de Medicina, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.
Laitman Y; The Susanne Levy Gertner Oncogenetics Unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Camejo N; Servicio de Oncología Clínica, Hospital de Clínicas 'Dr. Manuel Quintela', Facultad de Medicina, Universidad de la Republica, Montevideo, Uruguay.
Hernández AL; Departamento de Psicología Médica, Hospital de Clínicas 'Dr. Manuel Quintela', Facultad de Medicina, Universidad de la Republica, Montevideo, Uruguay.
Krygier G; Servicio de Oncología Clínica, Hospital de Clínicas 'Dr. Manuel Quintela', Facultad de Medicina, Universidad de la Republica, Montevideo, Uruguay.
Cayota A; Departamento Básico de Medicina, Facultad de Medicina, Universidad de la República, Montevideo, Uruguay.; Laboratorio de Genómica Funcional, Institut Pasteur de Montevideo, Montevideo, Uruguay.
Delgado L; Servicio de Oncología Clínica, Hospital de Clínicas 'Dr. Manuel Quintela', Facultad de Medicina, Universidad de la Republica, Montevideo, Uruguay.
Friedman E; The Susanne Levy Gertner Oncogenetics Unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel.; The Department of Genetics and biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jun; Vol. 10 (6), pp. e1928. Date of Electronic Publication: 2022 Mar 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Jews*/genetics
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Female ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Humans ; Male ; Neoplasm Recurrence, Local/genetics
Czasopismo naukowe
Tytuł:
Exploiting Synthetic Lethality between Germline BRCA1 Haploinsufficiency and PARP Inhibition in JAK2V617F-Positive Myeloproliferative Neoplasms.
Autorzy:
Bermes M; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Rodriguez MJ; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
de Toledo MAS; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Ernst S; Confocal Microscopy Facility, Interdisciplinary Center for Clinical Research IZKF, RWTH Aachen University, 52074 Aachen, Germany.
Müller-Newen G; Department of Biochemistry, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.
Brümmendorf TH; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Chatain N; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Koschmieder S; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
Baumeister J; Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Faculty of Medicine, RWTH Aachen University, 52074 Aachen, Germany.; Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD), 52074 Aachen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 16; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 16.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Myeloproliferative Disorders*/drug therapy
Myeloproliferative Disorders*/genetics
Neoplasms*/drug therapy
Humans ; DNA ; Germ Cells ; Haploinsufficiency ; Interferon-alpha/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; Recombinational DNA Repair ; Synthetic Lethal Mutations
Czasopismo naukowe
Tytuł:
Comparison of genetic diversity and phylogenetic structure of BRCA1 gene of some domestic and wild sheep breeds in different countries.
Autorzy:
Nikmanesh A; Department of Animal Science, Faculty of Agriculture, Shahid Bahonar University of Kerman, Kerman, Iran.
Esmailizadeh A; Department of Animal Science, Faculty of Agriculture, Shahid Bahonar University of Kerman, Kerman, Iran.
Asadollahpour Nanaei H; Department of Animal Science, Faculty of Agriculture, Shahid Bahonar University of Kerman, Kerman, Iran.
Ezedinloo L; Department of Environment (DOE), Natural History Museum & Genetic Resource, Bureau, Park Nature of Pardisan, Tehran, Iran.
Asadi Fozi M; Department of Animal Science, Faculty of Agriculture, Shahid Bahonar University of Kerman, Kerman, Iran.
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Źródło:
Animal biotechnology [Anim Biotechnol] 2023 Dec; Vol. 34 (9), pp. 4746-4759. Date of Electronic Publication: 2023 Mar 17.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Variation*/genetics
Genes, BRCA1*
Sheep/genetics ; Animals ; Phylogeny ; Sheep, Domestic/genetics ; Haplotypes/genetics ; Nucleotides
Czasopismo naukowe
Tytuł:
The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.
Autorzy:
Aretini P; Fondazione Pisana per la Scienza, San Giuliano Terme, 56017 Pisa, Italy.
Presciuttini S; Dipartimento di Ricerca Traslazionale e Nuove Tecnologie in Medicina e Chirurgia, Università di Pisa, 56126 Pisa, Italy.
Pastore A; Fondazione Pisana per la Scienza, San Giuliano Terme, 56017 Pisa, Italy.; Laboratorio NEST, Scuola Normale Superiore, 56126 Pisa, Italy.
Galli A; Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche (CNR), 56124 Pisa, Italy.
Panepinto S; Laboratorio di Genetica Molecolare, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.
Tancredi M; Laboratorio di Genetica Molecolare, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.
Ghilli M; Breast Unit, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.
Guglielmi C; Laboratorio di Genetica Molecolare, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.
Sidoti D; Laboratorio di Genetica Molecolare, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.
Congregati C; Genetica Medica, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.
Caligo MA; Laboratorio di Genetica Molecolare, Azienda Ospedaliera Universitaria Pisana, 56126 Pisa, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 24; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Breast Neoplasms*/genetics
Breast Neoplasms*/pathology
Ovarian Neoplasms*/genetics
Ovarian Neoplasms*/pathology
Female ; Humans ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Phylogeny ; Founder Effect
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Tytuł:
Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay.
Autorzy:
Scaglione GL; Laboratory of Molecular Oncology, IDI-IRCCS, Via dei Monti di Creta, 104, 00167 Rome, Italy.
Pignata S; Department of Urology and Gynecology, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Via Mariano Semmola, 53, 80131 Naples, Italy.
Pettinato A; Department of Pathological Anatomy, A.O.E. Cannizzaro, Via Messina, 829, 95126 Catania, Italy.
Paolillo C; Department of Clinical and Experimental Medicine, University of Foggia, Viale Luigi Pinto, 71122 Foggia, Italy.
Califano D; Functional Genomic Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Via Mariano Semmola, 53, 80131 Naples, Italy.
Scandurra G; Department of Medical Oncology, A.O.E. Cannizzaro, Via Messina, 829, 95126 Catania, Italy.
Lombardo V; Department of Medical Oncology, A.O.E. Cannizzaro, Via Messina, 829, 95126 Catania, Italy.
Di Gaudio F; A.O.U.P. Paolo Giaccone, Via del Vespro, 129, 90127 Palermo, Italy.
Pecorino B; Department of Obstetrics and Gynecology, A.O.E. Cannizzaro, Via Messina, 829, 95126 Catania, Italy.
Mereu L; Division of Obstetrics and Gynecology, Department of General Surgery and Medical-Surgical Specialism, University of Catania, P.O. 'G Rodolico', Via Santa Sofia, 78, 95123 Catania, Italy.
Scollo P; Department of Obstetrics and Gynecology, A.O.E. Cannizzaro, Via Messina, 829, 95126 Catania, Italy.; Faculty of Medicine, 'Kore' University, Cittadella Universitaria, 94100 Enna, Italy.
Capoluongo ED; Department of Clinical Pathology and Genomics, A.O.E. Cannizzaro, Via Messina 829, 95126 Catania, Italy.; Department of Molecular Medicine and Medical Biotechnology, Federico II University, Via Pansini, 5, 80131 Naples, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 04; Vol. 24 (23). Date of Electronic Publication: 2023 Dec 04.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Ovarian Neoplasms*/drug therapy
Ovarian Neoplasms*/genetics
Humans ; Female ; Mutation ; BRCA2 Protein/genetics ; Retrospective Studies ; Homologous Recombination
Czasopismo naukowe
Tytuł:
BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients.
Autorzy:
Liontos M; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Zografos E; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Zoumpourlis P; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Andrikopoulou A; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Svarna A; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Fiste O; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Kunadis E; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Papatheodoridi AM; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Kaparelou M; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Koutsoukos K; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Thomakos N; 1st Department of Obstetrics and Gyencology, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Haidopoulos D; 1st Department of Obstetrics and Gyencology, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Rodolakis A; 1st Department of Obstetrics and Gyencology, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Dimopoulos MA; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Zagouri F; Oncology Unit, Department of Clinical Therapeutics, Alexandra Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
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Źródło:
Current oncology (Toronto, Ont.) [Curr Oncol] 2021 Nov 03; Vol. 28 (6), pp. 4446-4456. Date of Electronic Publication: 2021 Nov 03.
Typ publikacji:
Journal Article
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/genetics
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Female ; Humans ; Mutation ; Prognosis
Czasopismo naukowe
Tytuł:
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Autorzy:
Diabate M; The Ohio State University, Department of Biomedical Informatics, Columbus, Ohio, United States of America.; The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, United States of America.
Islam MM; The Ohio State University, Department of Biomedical Informatics, Columbus, Ohio, United States of America.; The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, United States of America.
Nagy G; The Ohio State University, Department of Biomedical Informatics, Columbus, Ohio, United States of America.; The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, United States of America.
Banerjee T; The Ohio State University, Department of Biomedical Informatics, Columbus, Ohio, United States of America.; The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, United States of America.
Dhar S; The Ohio State University, Department of Biomedical Informatics, Columbus, Ohio, United States of America.; The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, United States of America.
Smith N; The University of Washington, Department of Genome Sciences, Seattle, Washington, United States of America.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, United States of America.
Adamovich AI; The Ohio State University, Department of Biomedical Informatics, Columbus, Ohio, United States of America.; The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, United States of America.
Starita LM; The University of Washington, Department of Genome Sciences, Seattle, Washington, United States of America.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, United States of America.
Parvin JD; The Ohio State University, Department of Biomedical Informatics, Columbus, Ohio, United States of America.; The Ohio State University Comprehensive Cancer Center, Columbus, Ohio, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Aug 14; Vol. 19 (8), pp. e1010739. Date of Electronic Publication: 2023 Aug 14 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein*/genetics
BRCA1 Protein*/metabolism
Recombinational DNA Repair*
Female ; Humans ; Breast Neoplasms/genetics ; DNA ; DNA Breaks, Double-Stranded ; Genetic Predisposition to Disease ; Mutation, Missense ; Ovarian Neoplasms/genetics ; Tumor Suppressor Proteins/genetics
Czasopismo naukowe
Tytuł:
CA125 Levels in BRCA mutation carriers - a retrospective single center cohort study.
Autorzy:
Gebhart P; Department of Obstetrics and Gynaecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria. .; Department of Obstetrics and Gynecology, University Hospital Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria. .
Singer CF; Department of Obstetrics and Gynaecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.; Department of Obstetrics and Gynecology, University Hospital Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.
Gschwantler-Kaulich D; Department of Obstetrics and Gynaecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.; Department of Obstetrics and Gynecology, University Hospital Vienna, Währinger Gürtel 18-20, 1090, Vienna, Austria.
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Źródło:
BMC cancer [BMC Cancer] 2023 Jul 01; Vol. 23 (1), pp. 610. Date of Electronic Publication: 2023 Jul 01.
Typ publikacji:
Journal Article
MeSH Terms:
BRCA1 Protein*/genetics
Ovarian Neoplasms*/diagnosis
Ovarian Neoplasms*/genetics
Humans ; Female ; BRCA2 Protein/genetics ; Cohort Studies ; Prospective Studies ; Retrospective Studies ; CA-125 Antigen
Czasopismo naukowe
Tytuł:
Clinical and biomarker factors affecting survival in patients with platinum-sensitive relapsed ovarian cancer receiving olaparib monotherapy: a multicenter retrospective study.
Autorzy:
Tashiro R; Department of Pharmacy, National Cancer Center Hospital, Tokyo, Japan.; Division of Pharmaceutical Care Sciences, Keio University Graduate School of Pharmaceutical Sciences, Tokyo, Japan.
Kawazoe H; Division of Pharmaceutical Care Sciences, Keio University Graduate School of Pharmaceutical Sciences, Tokyo, Japan. .; Division of Pharmaceutical Care Sciences, Center for Social Pharmacy and Pharmaceutical Care Sciences, Faculty of Pharmacy, Keio University, Tokyo, Japan. .
Mamishin K; Department of Pharmacy, National Cancer Center Hospital East, Chiba, Japan.
Seto K; Department of Pharmacy, Center Hospital of the National Center for Global Health and Medicine, Tokyo, Japan.
Udagawa R; Department of Pharmacy, National Cancer Center Hospital, Tokyo, Japan.
Saito Y; Department of Pharmacy, National Cancer Center Hospital, Tokyo, Japan.
Hashimoto H; Department of Pharmacy, National Cancer Center Hospital, Tokyo, Japan.
Shimoi T; Department of Medical Oncology, National Cancer Center Hospital, Tokyo, Japan.
Yonemori K; Department of Medical Oncology, National Cancer Center Hospital, Tokyo, Japan.
Yonemura M; Department of Pharmacy, National Cancer Center Hospital East, Chiba, Japan.
Terakado H; Department of Pharmacy, Center Hospital of the National Center for Global Health and Medicine, Tokyo, Japan.
Nishimura T; Department of Pharmacy, Center Hospital of the National Center for Global Health and Medicine, Tokyo, Japan.
Kawasaki T; Department of Pharmacy, National Cancer Center Hospital East, Chiba, Japan.
Furukawa T; Department of Pharmacy, National Cancer Center Hospital, Tokyo, Japan.
Nakamura T; Division of Pharmaceutical Care Sciences, Keio University Graduate School of Pharmaceutical Sciences, Tokyo, Japan.; Division of Pharmaceutical Care Sciences, Center for Social Pharmacy and Pharmaceutical Care Sciences, Faculty of Pharmacy, Keio University, Tokyo, Japan.
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Źródło:
Scientific reports [Sci Rep] 2023 Jul 24; Vol. 13 (1), pp. 11962. Date of Electronic Publication: 2023 Jul 24.
Typ publikacji:
Multicenter Study; Journal Article
MeSH Terms:
BRCA1 Protein*
Ovarian Neoplasms*
Female ; Humans ; BRCA2 Protein ; Prospective Studies ; Retrospective Studies ; CA-125 Antigen ; Carcinoma, Ovarian Epithelial ; Platinum
Czasopismo naukowe

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